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Paediatrician's Guide To Post-Operative Care For Functionally Univentricular Chd: A Review, Christina Ronai, Sarosh P Batlivala, Quang-Tuyen Nguyen, Markus S Renno, Lindsay Arthur, Julie Glickstein, Jonathan N Johnson, Jacob R Miller, Carolyn A Altman, Elif Seda Selamet Tierney
Paediatrician's Guide To Post-Operative Care For Functionally Univentricular Chd: A Review, Christina Ronai, Sarosh P Batlivala, Quang-Tuyen Nguyen, Markus S Renno, Lindsay Arthur, Julie Glickstein, Jonathan N Johnson, Jacob R Miller, Carolyn A Altman, Elif Seda Selamet Tierney
2020-Current year OA Pubs
IMPORTANCE: Single ventricle CHD affects about 5 out of 100,000 newborns, resulting in complex anatomy often requiring multiple, staged palliative surgeries. Paediatricians are an essential part of the team that cares for children with single ventricle CHD. These patients often encounter their paediatrician first when a complication arises, so it is critical to ensure the paediatrician is knowledgeable of these issues to provide optimal care.
OBSERVATIONS: We reviewed the subtypes of single ventricle heart disease and the various palliative surgeries these patients undergo. We then searched the literature to detail the general paediatrician's approach to single ventricle patients at different …
Mutation Spectrum Of Congenital Heart Disease In A Consanguineous Turkish Population, Weilai Dong, Hande Kaymakcalan, Sheng Chih Jin, Nicholas S Diab, Cansaran Tanıdır, Ali Seyfi Yalim Yalcin, A Gulhan Ercan-Sencicek, Shrikant Mane, Murat Gunel, Richard P Lifton, Kaya Bilguvar, Martina Brueckner
Mutation Spectrum Of Congenital Heart Disease In A Consanguineous Turkish Population, Weilai Dong, Hande Kaymakcalan, Sheng Chih Jin, Nicholas S Diab, Cansaran Tanıdır, Ali Seyfi Yalim Yalcin, A Gulhan Ercan-Sencicek, Shrikant Mane, Murat Gunel, Richard P Lifton, Kaya Bilguvar, Martina Brueckner
2020-Current year OA Pubs
BACKGROUNDS: While many studies agree that consanguinity increases the rate of congenital heart disease (CHD), few genome analyses have been conducted with consanguineous CHD cohorts.
METHODS: We recruited 73 CHD probands from consanguineous families in Turkey and used whole-exome sequencing (WES) to identify genetic lesions in these patients.
RESULTS: On average, each patient had 6.95 rare damaging homozygous variants, 0.68 of which are loss-of-function (LoF) variants. Seven patients (9.6%) carried damaging homozygous variants in five causal CHD genes. Six of those patients exhibited laterality defects (six HTX and one D-TGA). Three additional patients (4.1%) harbored other types of CHD-associated genomic …